Varaico: Literature-Extracted Genetic Variants

PCDHGA7

79 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 7

HGNC Alias Symbol

PCDH-GAMMA-A7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018920.4

p.S667G

c.1999A>G

Surrounding Variants

1 paper

NM_018920.4

p.V662L

c.1984G>C

1 paper

NM_018920.4

p.V662L

c.1984G>T

1 paper

NM_018920.4

p.L672W

c.2015T>G

1 paper

NM_018920.4

p.T661fs

c.1981_1982fs

1 paper

NM_018920.4

p.A673V

c.2018C>T

1 paper

NM_018920.4

p.L660_T661delFs

c.1980_1983del4

1 paper

NM_018920.4

p.L660fs

c.1978_1979fs

1 paper

NM_018920.4

p.T659insFs

c.1976_1977ins4

1 paper

NM_018920.4

p.G676G

c.2028C>T

1 paper

NM_018920.4

p.S677R

c.2029A>C

1 paper

NM_018920.4

p.S677R

c.2031C>A

1 paper

NM_018920.4

p.S677R

c.2031C>G